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JAK2 mutation in a boy with polycythemia vera, but not in other pediatric hematologic Disorders

Leukemia volume 20, pages 1453–1454 (2006)Cite this article

Recently, several groups have reported an activating mutation of Janus kinase (JAK2) in many patients with myeloproliferative disorders (MPDs), with an especially high prevalence in polycythemia vera (PV), essential thrombocythemia and idiopathic myelofibrosis.1, 2, 3 JAK2 is a member of the tyrosine kinase family, which phosphorylates the cytoplasmic target and results in activating cytokine receptor signaling. Genetic evidence and in vitro function studies indicate that the activating mutation of the JAK2 gene, which plays a critical role in the pathogenesis of MPDs, gives proliferative and survival advantages to hematopoietic precursors.2 Recently, JAK2 V617F has been reported in one of five juvenile myelomonocytic leukemia (JMML) patients.4 However, the prevalence of JAK2 V617F in pediatric hematologic disorders remains unknown. Notably, MPDs patients bearing JAK2 V617F were significantly older than V617F-negative patients in an adult series.5

To identify the prevalence of JAK2 mutation in pediatric hematologic disorders, we examined 27 patients with acute lymphoblastic leukemia (ALL), 28 with acute myeloid leukemia (AML), 20 patients with myelodysplastic syndrome, 22 patients with JMML, 11 Down's syndrome (DS) patients with transient abnormal myelopoiesis (TAM), 12 DS patients with acute megakaryocytic leukemia (AMKL), eight patients with AMKL without DS and one patient with PV. We also examined 49 ALL cell lines and 21 AML cell lines for JAK2 gene. Polymerase chain reaction was performed followed by direct sequencing as previously reported.2, 6

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Authors and Affiliations

  1. Division of Hematology/Oncology, Gunma Children's Medical Center, Gunma, Japan

    M-J Park, A Shimada & Y Hayashi

  2. Department of Pediatrics, Iwaki-kyouritsu General Hospital, Iwaki, Japan

    H Asada

  3. Department of Pediatrics, Ibaraki Children's Hospital, Mito, Japan

    K Koike & M Tsuchida

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  1. M-J Park
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  2. A Shimada
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  3. H Asada
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  4. K Koike
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  6. Y Hayashi
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Correspondence to Y Hayashi.

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Park, MJ., Shimada, A., Asada, H. et al. JAK2 mutation in a boy with polycythemia vera, but not in other pediatric hematologic Disorders. Leukemia 20, 1453–1454 (2006). https://doi.org/10.1038/sj.leu.2404259

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